Preference heterogeneity with respect to whole genome sequencing. A discrete choice experiment among parents of children with rare genetic diseases

Rare diseases affect nearly 300 million people globally with most patients aged five or less. Traditional diagnostic approaches have provided much of the diagnosis; however, there are limitations. For instance, simply inadequate and untimely diagnosis adversely affects both the patient and their families. This review advocates the use of whole genome sequencing in clinical settings for diagnosis of rare genetic diseases by showcasing five case studies. These examples specifically describe the utilization of whole genome sequencing, which helped in providing relief to patients via correct diagnosis followed by use of precision medicine.

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Job preferences of undergraduate pharmacy students in China: a discrete choice experiment

Human Resources for Health ◽

10.1186/s12960-021-00626-8 ◽

2021 ◽

Vol 19 (1) ◽

Author(s):

Ping Liu ◽

Shimeng Liu ◽

Tiantian Gong ◽

Quan Li ◽

Gang Chen ◽

...

Keyword(s):

Discrete Choice Experiment ◽

Discrete Choice ◽

Rural Areas ◽

Choice Experiment ◽

Job Characteristics ◽

Pharmacy Students ◽

Preference Heterogeneity ◽

Short Supply ◽

Job Preferences ◽

Open Management

Abstract Background Pharmacists are a crucial part of the health workforce and play an important role in achieving universal health coverage. In China, pharmaceutical human resources are in short supply, and the distribution is unequal. This study aimed to identify the key job characteristics that influence the job preferences of undergraduate pharmacy students and to elicit the relative importance of different job characteristics to shed light on future policy interventions. Methods A discrete choice experiment was conducted to assess the job preferences of undergraduate pharmacy students from 6 provinces in mainland China. A face-to-face interview was used to collect data. Conditional logit and mixed logit models were used to analyse data, and the final model was chosen according to the model fit statistics. A series of policy simulations was also conducted. Results In total, 581 respondents completed the questionnaire, and 500 respondents who passed the internal consistency test were analysed. All attributes were statistically significant except for open management. Monthly income and work location were most important to respondents, followed by work unit (which refers to the nature of the workplace) and years to promotion. There was preference heterogeneity among respondents, e.g., male students preferred open management, and female students preferred jobs in public institutions. Furthermore, students with an urban background or from a single-child family placed higher value on a job in the city compared to their counterparts. Conclusion The heterogeneity of attributes showed the complexity of job preferences. Both monetary and nonmonetary job characteristics significantly influenced the job preferences of pharmacy students in China. A more effective policy intervention to attract graduates to work in rural areas should consider both incentives on the job itself and the background of pharmacy school graduates.

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Analyzing preference heterogeneity for soil amenity improvements using discrete choice experiment

Environment Development and Sustainability ◽

10.1007/s10668-018-0250-8 ◽

2018 ◽

Vol 22 (2) ◽

pp. 1323-1351 ◽

Cited By ~ 3

Author(s):

Matthew Oliver Ralp Dimal ◽

Victor Jetten

Keyword(s):

Discrete Choice Experiment ◽

Discrete Choice ◽

Choice Experiment ◽

Preference Heterogeneity

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A protocol for a discrete choice experiment: understanding preferences of patients with cancer towards their cancer care across metropolitan and rural regions in Australia

BMJ Open ◽

10.1136/bmjopen-2014-006661 ◽

2014 ◽

Vol 4 (10) ◽

pp. e006661 ◽

Cited By ~ 16

Author(s):

Shu Fen Wong ◽

Richard Norman ◽

Trisha L Dunning ◽

David M Ashley ◽

Paula K Lorgelly

Keyword(s):

Discrete Choice Experiment ◽

Discrete Choice ◽

Cancer Care ◽

Choice Experiment ◽

Fractional Factorial ◽

Medical Decision ◽

Preference Heterogeneity ◽

Related Factors ◽

Patients With Cancer ◽

Clinical Scenarios

IntroductionMedical decision-making in oncology is a complicated process and to date there are few studies examining how patients with cancer make choices with respect to different features of their care. It is also unknown whether patient choices vary by geographical location and how location could account for observed rural and metropolitan cancer differences. This paper describes an ongoing study that aims to (1) examine patient and healthcare-related factors that influence choices of patients with cancer; (2) measure and quantify preferences of patients with cancer towards cancer care using a discrete choice experiment (DCE) and (3) explore preference heterogeneity between metropolitan and rural locations.Methods and analysisA DCE is being conducted to understand how patients with cancer choose between two clinical scenarios accounting for different patient and healthcare-related factors (and levels). Preliminary qualitative research was undertaken to guide the development of an appropriate DCE design including characteristics that are important and relevant to patients with cancer. A fractional factorial design using the D-efficiency criteria was used to estimate interactions among attributes. Multinomial logistic regression will be used for the primary DCE analysis and to control for sociodemographic and clinical characteristics.Ethics and disseminationThe Barwon Health Human Research Ethics Committee approved the study. Findings from the study will be presented in national/international conferences and peer-reviewed journals. Our results will form the basis of a feasibility study to inform the development of a larger scale study into preferences of patients with cancer and their association with cancer outcomes.

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Analyzing preferences for family doctor contract services in rural China: a study using discrete choice experiment

10.21203/rs.2.11846/v2 ◽

2019 ◽

Author(s):

peipei Fu ◽

Yi Wang ◽

Shimeng Liu ◽

Jiajia Li ◽

qiufeng Gao ◽

...

Keyword(s):

Educational Attainment ◽

Discrete Choice Experiment ◽

Discrete Choice ◽

Choice Experiment ◽

Family Doctor ◽

Preference Heterogeneity ◽

Reimbursement Rate ◽

Rural Residents ◽

The Family ◽

Good Attitude

Abstract Background: Preliminary evaluations have found that family doctor contract service has significantly controlled medical expenses, better managed chronic diseases, and increased patient satisfaction and service compliance. In 2016, China proposed the establishment of a family doctor system to carry out contract services, but studies have found uptake and utilization of these services to be limited. This study aimed to investigate rural resident preferences for FDCS from the public perspective in China. Methods : A discrete choice experiment (DCE) was performed to elicit respondent preferences towards FDCS among rural residents in China. Attributes and levels were established based on literature review and qualitative methods. Five attributes consisted of cost, medicine availability, reimbursement rate, competence of the family doctor, and attitude of the family doctor were evaluated using mixed logit model. Results: A total number of 609 residents were included in the main DCE analysis. Respondents valued high competence (coefficient 2.44, [SE 0.13]) and good attitude (coefficient 1.42, [SE 0.09]) of the family doctor most. Cost was negatively valued (coefficient -0.01, [SE 0.01]) as expected. The preference heterogeneity analysis was conducted after adjusting the interaction terms, we found that rural residents with lower educational attainment prefer good attitude than those with higher educational attainment counterparts. The estimated willingness to pay (WTP) for “high” relative to “low” competence was 441.13 RMB/year and WTP for a provider with a “good” relative to a “poor” attitude was 255.77 RMB/year. Conclusion: This present study suggested priorities should be given to strengthen and improve the quality of primary health care including family doctors’ competence and attitudes so as to increase the uptake of signing FDCS. The contract service package including annual cost, insurance reimbursement rate and individualized services should be redesigned and become congruent with residents with different health status and their stated preferences.

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Use of Lotteries for the Promotion of Voluntary Medical Male Circumcision Service: A Discrete-Choice Experiment among Adult Men in Tanzania

Medical Decision Making ◽

10.1177/0272989x19852095 ◽

2019 ◽

Vol 39 (4) ◽

pp. 474-485 ◽

Cited By ~ 1

Author(s):

Jason J. Ong ◽

Nyasule Neke ◽

Mwita Wambura ◽

Evodius Kuringe ◽

Jonathan M. Grund ◽

...

Keyword(s):

Discrete Choice Experiment ◽

Discrete Choice ◽

Male Circumcision ◽

Choice Experiment ◽

Latent Class ◽

Individual Preference ◽

Preference Heterogeneity ◽

Voluntary Medical Male Circumcision ◽

Lottery Ticket ◽

Medical Male Circumcision

Voluntary medical male circumcision (VMMC) is effective in reducing the risk of human immunodeficiency virus (HIV). However, countries like Tanzania have high HIV prevalence but low uptake of VMMC. We conducted a discrete-choice experiment to evaluate the preferences for VMMC service attributes in a random sample of 325 men aged 18 years or older from the general population in 2 Tanzanian districts, Njombe and Tabora. We examined the preference for financial incentives in the form of a lottery ticket or receiving a guaranteed transport voucher for attendance at a VMMC service. We created a random-parameters logit model to account for individual preference heterogeneity and a latent class analysis model for identifying groups of men with similar preferences to test the hypothesis that men who reported sexually risky behaviors (i.e., multiple partners and any condomless sex in the past 12 months) may have a preference for participation in a lottery-based incentive. Most men preferred a transport voucher (84%) over a lottery ticket. We also found that offering a lottery-based financial incentive may not differentially attract those with greater sexual risk. Our study highlights the importance of gathering local data to understand preference heterogeneity, particularly regarding assumptions around risk behaviors.

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Whole-Genome Sequencing in Diagnostics of Selected Slovenian Undiagnosed Patients with Rare Disorders

Life ◽

10.3390/life11030205 ◽

2021 ◽

Vol 11 (3) ◽

pp. 205

Author(s):

Gaber Bergant ◽

Aleš Maver ◽

Borut Peterlin

Keyword(s):

Whole Genome Sequencing ◽

Genome Sequencing ◽

Genetic Disorders ◽

Genetic Diseases ◽

Diagnostic Testing ◽

Positive Family History ◽

Clinical Diagnostics ◽

Whole Genome ◽

Exon Duplication ◽

The Impact

Several patients with rare genetic disorders remain undiagnosed following comprehensive diagnostic testing using whole-exome sequencing (WES). In these patients, pathogenic genetic variants may reside in intronic or regulatory regions or they may emerge through mutational mechanisms not detected by WES. For this reason, we implemented whole-genome sequencing (WGS) in routine clinical diagnostics of patients with undiagnosed genetic disorders and report on the outcome in 30 patients. Criteria for consideration included (1) negative WES, (2) a high likelihood of a genetic cause for the disorders, (3) positive family history, (4) detection of large blocks of homozygosity or (5) detection of a single pathogenic variant in a gene associated with recessive conditions. We successfully discovered a causative genetic variant in 6 cases, a retrotranspositional event in the APC gene, non-coding variants in the intronic region of the OTC gene and the promotor region of the UFM1 gene, repeat expansion in the RFC1 gene and a single exon duplication in the CNGB3 gene. We also discovered one coding variant, an indel, which was missed by variant caller during WES data analysis. Our study demonstrates the impact of WGS in the group of patients with undiagnosed genetic diseases after WES in the clinical setting and the diversity of mutational mechanisms discovered, which would remain undetected using other methods.

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What Are the Important Factors Influencing the Recruitment and Retention of Doctoral Students in a Public Health Setting? A Discrete Choice Experiment Survey in China

International Journal of Environmental Research and Public Health ◽

10.3390/ijerph18189474 ◽

2021 ◽

Vol 18 (18) ◽

pp. 9474

Author(s):

Shimeng Liu ◽

Yingyao Chen ◽

Shunping Li ◽

Ningze Xu ◽

Chengxiang Tang ◽

...

Keyword(s):

Doctoral Students ◽

Discrete Choice Experiment ◽

Discrete Choice ◽

Logit Model ◽

Choice Experiment ◽

Working Environment ◽

Preference Heterogeneity ◽

Monthly Income ◽

Recruitment And Retention ◽

Employment Location

Objectives: This study aims to investigate the employment preferences of doctoral students majoring in social medicine and health care management (SMHCM), to inform policymakers and future employers on how to address recruitment and retention requirements at CDCs across China. Methods: An online discrete choice experiment (DCE) was conducted to elicit doctoral SMHCM students’ job preferences. The scenarios were described with seven attributes: monthly income, employment location, housing benefits, children’s education opportunities, working environment, career promotion speed, and bianzhi. A conditional logit model and a mixed logit model were used to evaluate the relative importance of the selected attributes. Results: A total of 167 doctoral SMHCM students from 24 universities completed the online survey. All seven attributes were statistically significant with the expected sign and demonstrated the existence of preference heterogeneity. Monthly income and employment location were of most concern for doctoral SMHCM students when deciding their future jobs. Among the presented attributes, working environment was of least concern. For the sub-group analysis, employment located in a first-tier city was more likely to lead to a higher utility value for doctoral students who were women, married, from an urban area, and had a high annual family income. Unsurprisingly, when compared to single students, married students were willing to forgo more for good educational opportunities for their children. Conclusions: Our study suggests that monthly income and employment location were valued most by doctoral SMHCM students when choosing a job. A more effective human resource policy intervention to attract doctoral SMHCM students to work in CDCs, especially CDCs in third-tier cities should consider both the incentives provided by the job characteristics and the background of students. Doctoral students are at the stages of career preparation, so the results of this study would be informative for policymakers and help them to design the recruitment and retention policies for CDCs.

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Influence of Vaccination Characteristics on COVID-19 Vaccine Acceptance Among Working-Age People in Hong Kong, China: A Discrete Choice Experiment

Frontiers in Public Health ◽

10.3389/fpubh.2021.793533 ◽

2021 ◽

Vol 9 ◽

Author(s):

Kailu Wang ◽

Eliza Lai-Yi Wong ◽

Annie Wai-Ling Cheung ◽

Peter Sen-Yung Yau ◽

Vincent Chi-Ho Chung ◽

...

Keyword(s):

Social Media ◽

Hong Kong ◽

Discrete Choice Experiment ◽

Discrete Choice ◽

Choice Experiment ◽

Vaccine Uptake ◽

Preference Heterogeneity ◽

Significant Information ◽

Vaccine Acceptance ◽

General Physicians

Background: Along with individual-level factors, vaccination-related characteristics are important in understanding COVID-19 vaccine hesitancy. This study aimed to determine the influence of these characteristics on vaccine acceptance to formulate promotion strategies after considering differences among respondents with different characteristics.Methods: An online discrete choice experiment was conducted among people aged 18–64 years in Hong Kong, China, from 26 to 28 February 2021. Respondents were asked to make choices regarding hypothetical vaccination programmes described by vaccination-related characteristics—the attributes derived from a prior individual interview. Subgroup analysis was performed to identify the differences in vaccination-related characteristics among respondents with different personal characteristics.Results: A total of 1,773 respondents provided valid responses. The vaccine efficacy and brand were the most important factors affecting acceptance, followed by the exemption of quarantine for vaccinated travelers, safety, venue for vaccination, vaccine uptake of people in their lives, and recommendations by general physicians or government. Frequent exposure to vaccination information on social media has been associated with increasing vaccine refusal. Substantial preference heterogeneity for the attributes was found among people of different ages, incomes, chronic conditions, and previous acceptance of influenza vaccines.Conclusion: The findings provided evidence to formulate interventions to promote vaccine uptake, including the provision of vaccination at housing estate or workplaces, involvement of general physicians and interpersonal communication in vaccine promotion and information dissemination, and exemption of quarantine for vaccinated people. Moreover, social media is a significant information channel that cannot be neglected in the dissemination of official information.

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